Abstract
South Africans of Indian origin have a high frequency of Familial Hypercholesterolemia (FH). Fibroblasts from a South African Indian FH homozygote, D, expressed about 30% of the normal number of LDL receptors. These receptors showed defective LDL binding. Sequence and haplotype analysis revealed that D had two different mutant LDL receptor alleles: FH Durban-1 is a point mutation [asp69(GAT) to tyr(TAT)] in ligand-binding repeat 2 and FH Durban-2 is a point mutation [glu119GAG) to lys(AAG)] in ligand-binding repeat three of the LDL receptor. Single-strand conformational polymorphism analysis, which was used in the initial detection of these mutations, was also employed for subsequent population screening assays. These mutations were not detected in amy of the South African Indian FH of hypercholesterolemic patients that were screened.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 75-82 |
| Number of pages | 8 |
| Journal | BBA - Molecular Basis of Disease |
| Volume | 1182 |
| Issue number | 1 |
| DOIs | |
| State | Published - Aug 4 1993 |
| Externally published | Yes |
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Keywords
- Familial hypercholesterolemia
- LDL
- LDL receptor
- Mutation
ASJC Scopus subject areas
- Biophysics
- Molecular Biology
- Molecular Medicine
Cite this
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin. / Rubinsztein, David C.; Jialal, Ishwarlal; Leitersdorf, Eran; Coetzee, Gerhard A.; van der Westhuyzen, Deneys R.
In: BBA - Molecular Basis of Disease, Vol. 1182, No. 1, 04.08.1993, p. 75-82.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin
AU - Rubinsztein, David C.
AU - Jialal, Ishwarlal
AU - Leitersdorf, Eran
AU - Coetzee, Gerhard A.
AU - van der Westhuyzen, Deneys R.
PY - 1993/8/4
Y1 - 1993/8/4
N2 - South Africans of Indian origin have a high frequency of Familial Hypercholesterolemia (FH). Fibroblasts from a South African Indian FH homozygote, D, expressed about 30% of the normal number of LDL receptors. These receptors showed defective LDL binding. Sequence and haplotype analysis revealed that D had two different mutant LDL receptor alleles: FH Durban-1 is a point mutation [asp69(GAT) to tyr(TAT)] in ligand-binding repeat 2 and FH Durban-2 is a point mutation [glu119GAG) to lys(AAG)] in ligand-binding repeat three of the LDL receptor. Single-strand conformational polymorphism analysis, which was used in the initial detection of these mutations, was also employed for subsequent population screening assays. These mutations were not detected in amy of the South African Indian FH of hypercholesterolemic patients that were screened.
AB - South Africans of Indian origin have a high frequency of Familial Hypercholesterolemia (FH). Fibroblasts from a South African Indian FH homozygote, D, expressed about 30% of the normal number of LDL receptors. These receptors showed defective LDL binding. Sequence and haplotype analysis revealed that D had two different mutant LDL receptor alleles: FH Durban-1 is a point mutation [asp69(GAT) to tyr(TAT)] in ligand-binding repeat 2 and FH Durban-2 is a point mutation [glu119GAG) to lys(AAG)] in ligand-binding repeat three of the LDL receptor. Single-strand conformational polymorphism analysis, which was used in the initial detection of these mutations, was also employed for subsequent population screening assays. These mutations were not detected in amy of the South African Indian FH of hypercholesterolemic patients that were screened.
KW - Familial hypercholesterolemia
KW - LDL
KW - LDL receptor
KW - Mutation
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UR - http://www.scopus.com/inward/citedby.url?scp=0027254568&partnerID=8YFLogxK
U2 - 10.1016/0925-4439(93)90156-U
DO - 10.1016/0925-4439(93)90156-U
M3 - Article
VL - 1182
SP - 75
EP - 82
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
SN - 0925-4439
IS - 1
ER -